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学科主题: 临床医学
题名:
TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy
作者: Han, Fang1; Lin, Ling2; Li, Jing1; Aran, Adi2; Dong, Song X.1; An, Pei1; Zhao, Long1; Li, Qian Y.1; Yan, Han1; Wang, Jie S.1; Gao, Hui Y.1; Li, Mei1; Gao, Zhan C.1; Strohl, Kingman P.3,4; Mignot, Emmanuel2
关键词: Narcolepsy ; TCR alpha ; P2RY11 ; CPT1B/CHKB ; Hypocretin ; Orexin ; MSLT ; HLA-DQB1(*)0602
刊名: SLEEP MEDICINE
发表日期: 2012-03-01
DOI: 10.1016/j.sleep.2011.06.020
卷: 13, 期:3, 页:269-272
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: ETHNIC-GROUPS ; CATAPLEXY ; SUSCEPTIBILITY ; HYPERSOMNIAS ; RISK ; CHKB
英文摘要:

Objectives: Polymorphisms in the TCRA and P2RY11, two immune related genes, are associated with narcolepsy in Caucasians and Asians. In contrast, CPT1B/CHKB polymorphisms have only been shown to be associated with narcolepsy in Japanese, with replication in a small group of Koreans. Our aim was to study whether these polymorphisms are associated with narcolepsy and its clinical characteristics in Chinese patients with narcolepsy.

Methods: We collected clinical data on 510 Chinese patients presenting with narcolepsy/hypocretin deficiency. Patients were included either when hypocretin deficiency was documented (CSF hypocretin-1 <= 110 pg/ml, n = 91) or on the basis of the presence of clear cataplexy and HLA-DQB1(*)0602 positivity (is = 419). Genetic data was compared to typing obtained in 452 controls matched for geographic origin within China. Clinical evaluations included demographics, the Stanford Sleep Inventory (presence and age of onset of each symptom), and Multiple Sleep Latency Test (MSLT) data.

Results: Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms. CPT1B/CHKB polymorphisms were not associated with any specific clinical characteristics. TCRA rs1154155A homozygotes (58 subjects) had a later disease onset, but this was not significant when corrected for multiple comparisons, thus replication is needed. CPT1B/CHKB or P2RY11 polymorphisms were not associated with any specific clinical characteristics.

Conclusions: The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population. (C) 2011 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 81070069 ; GZ538 ; D1011000050010029 ; HL 047380 ; NIH-NS23724
项目资助者: NSFC ; Sino-German Center for Research Promotion ; Beijing Municipal Science &amp ; Technology Commission ; VA Research Service ; NIH
WOS记录号: WOS:000301695600008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56978
Appears in Collections:北京大学第二临床医学院_呼吸内科_期刊论文

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作者单位: 1.Stanford Univ, Ctr Sleep Sci, Palo Alto, CA 94304 USA
2.Peking Univ Peoples Hosp, Dept Pulm Med, Beijing 100044, Peoples R China
3.Case Western Reserve Univ, Dept Med, Div Pulm Crit Care & Sleep Med, Cleveland, OH 44106 USA
4.Case Western Reserve Univ, Cleveland Louis Stokes VA Med Ctr, Cleveland, OH 44106 USA

Recommended Citation:
Han, Fang,Lin, Ling,Li, Jing,et al. TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy[J]. SLEEP MEDICINE,2012,13(3):269-272.
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